Familial hypercholesterolaemia
Familial hypercholesterolaemia (FH) is an inherited disorder in which the liver’s ability to remove low-density lipoproteins (LDL) – commonly known as bad cholesterol – from the blood is impaired, resulting in elevated blood cholesterol levels.
Without early diagnosis and treatment, this cholesterol will build up in the arteries, increasing the individual’s risk of premature coronary artery disease, heart attack and early death.
In people with FH, this build-up begins in childhood and is why early detection and treatment is so important.
How do you get FH
FH is an autosomal dominant disorder. This means it is an inherited disorder that requires mutation in only one copy of the gene responsible for regulating the liver’s ability to remove cholesterol from the blood.
Because FH is an inherited condition, it is present from birth.
People who are at increased risk of FH
- Anybody who has an immediate family member with FH is at risk of having the condition.
- Anybody who has a close relative who has had premature coronary artery disease, a premature heart attack or been diagnosed with FH should be screened for the condition. (In males a heart attack is deemed premature if it occurs before the age of 55, while in females it is before the age of 60.)
- Anybody who has a high blood cholesterol level identified at an early age may have the condition.
- In families with a history of FH, children should be offered screening from the age of 5 years.
Signs and symptoms
There are usually no signs or symptoms of FH, which is why many people discover they have the condition only after a close relative has a heart attack, stroke or other problem of the circulatory system.
Sometimes cholesterol will accumulate in various parts of the body such as the heels, elbows or eyes (where it can appear as a white ring around the iris).
An FH diagnosis is made by a doctor and based on blood-cholesterol testing, family history and – where available – genetic testing.
If you suspect you have FH or believe you may be at risk for FH see your doctor.
Treatment of FH
FH is usually managed using statins or other cholesterol-lowering medication in combination with a low-fat, heart-healthy diet and regular exercise. People with FH should not smoke.
Children diagnosed with FH can safely take cholesterol-lowering medication from the age of 10.
If left untreated
Without treatment, cholesterol will build up in the arteries of people with FH, increasing their risk of premature coronary artery disease, heart attacks and early death.
If you have FH
- Seek medical advice on how best to manage your condition. This will probably include taking cholesterol-lowering medication.
- Let other family members know you have FH and encourage them to get tested for it. Even children should be tested for FH because early treatment can be vital in preventing future heart problems.
- Consider joining the National FH Registry (external site).
How can FH be prevented?
FH is inherited so it cannot be prevented. However, with early detection and careful management, which usually includes cholesterol-lowering medication, people with FH can lead long and fulfilling lives.
Living with FH
If you have FH you should ensure you take any cholesterol-lowering medication prescribed by your doctor, maintain a healthy, low-fat diet and exercise regularly. You should not smoke.
Where to get help
Remember
- The majority of people with FH will require cholesterol-lowering medication to maintain healthy blood cholesterol levels.
- Early detection and treatment can prevent heart disease and prolong the lives of people with FH.
- If you have been diagnosed with FH you should advise other family members of your condition so that they can be tested for the condition.
- If you have been diagnosed with FH you should consider joining the National FH Registry (external site). Your inclusion on the data base will enable health planners and researchers to better plan for future FH services. It may also give you the opportunity to participate in future drug or treatment trials and be advised of new FH developments.
This publication is provided for education and information purposes only. It is not a substitute for professional medical care. Information about a therapy, service, product or treatment does not imply endorsement and is not intended to replace advice from your healthcare professional. Readers should note that over time currency and completeness of the information may change. All users should seek advice from a qualified healthcare professional for a diagnosis and answers to their medical questions.